regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN4_chr19_38642649_38736589 | 38735967 | C | CGGGGCGG others(23): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0284 | 1 | 314 | 0.0032 | 30 | c.*65 others(41): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4379 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735973 | G | GGGGCGGG others(23): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027a0001c0002t0001g0274 | 2 | 314 | 0.0064 | 30 | c.*65 others(41): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4385 | chr19 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169770194 | T | TATATATT others(23): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 30 | c.-67 others(39): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 634 | chr3 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147844400 | G | GGCCGCCG others(23): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 338 | 0.0030 | 30 | c.-75 others(39): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 628 | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147844409 | T | TGCCGCCG others(23): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0284 | 1 | 338 | 0.0030 | 30 | c.-74 others(39): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 619 | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54035009 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01192.hp1 NA19000.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0002 | a0001c0002t0002g0058a0002c0003t0002g0008 | 2 | 272 | 0.0074 | 30 | c.63- others(47): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54201636 | C | CTTTTTCT others(23): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 272 | 0.0037 | 30 | c.404 others(49): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADA2_chr22_17173790_17224435 | 17184983 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01192.hp2 others(12): Show |
a0001a0002 | a0001c0005a0001c0008a0001c0010others(2): Show | a0001c0005t0002a0001c0005t0004a0001c0005t0039others(5): Show | a0001c0005t0002g0033a0001c0005t0002g0174a0001c0005t0002g0194others(12): Show | 15 | 408 | 0.0368 | 30 | c.108 others(49): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02280.hp2 NA20129.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0040a0002c0002t0003g0041 | 2 | 408 | 0.0049 | 30 | c.973 others(45): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17188868 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02922.hp2 HG02970.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0006 | a0001c0003t0003a0002c0002t0003a0002c0006t0003 | a0001c0003t0003g0105a0002c0002t0003g0042a0002c0002t0003g0044others(1): Show | 4 | 408 | 0.0098 | 30 | c.973 others(45): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 6/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17208810 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0028 | 1 | 408 | 0.0025 | 30 | c.322 others(45): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/9 | chr22 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122416690 | A | ATCACTGC others(23): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 | 1 | 376 | 0.0027 | 30 | c.148 others(49): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADAL_chr15_43325672_43359569 | 43334633 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02145.hp2 HG02523.hp1 others(6): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0025a0002c0004t0004 | a0001c0002t0001g0029a0001c0002t0001g0063a0001c0002t0001g0064others(5): Show | 9 | 386 | 0.0233 | 30 | c.-16 others(47): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAM10_chr15_58583809_58754707 | 58688786 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0235 | 1 | 342 | 0.0029 | 30 | c.207 others(47): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58688786 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0122 | a0001c0001t0047g0091a0001c0001t0122g0090 | 2 | 342 | 0.0059 | 30 | c.207 others(47): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0150 | 1 | 252 | 0.0040 | 30 | c.114 others(49): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0019 | a0001c0019t0018 | a0001c0019t0018g0203 | 1 | 252 | 0.0040 | 30 | c.114 others(49): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0172 | 1 | 252 | 0.0040 | 30 | c.114 others(49): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0176 | 1 | 252 | 0.0040 | 30 | c.114 others(49): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126120925 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0003a0001c0004others(23): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(63): Show | a0001c0002t0001g0065a0001c0002t0001g0066a0001c0002t0001g0101others(107): Show | 110 | 252 | 0.4365 | 30 | c.417 others(47): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126193904 | G | GAAATAAA others(23): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03471.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0018a0001c0003t0013 | a0001c0002t0018g0135a0001c0003t0013g0183 | 2 | 252 | 0.0079 | 30 | c.261 others(49): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9489259 | A | ATTTTTTT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0003 | a0002c0003t0041 | a0002c0003t0041g0059 | 1 | 234 | 0.0043 | 30 | c.*91 others(39): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 19/19 | 917 | chr2 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 88113703 | A | AATAAATA others(23): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0180 | 1 | 230 | 0.0044 | 30 | c.474 others(45): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 88113709 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0230 | 1 | 230 | 0.0044 | 30 | c.474 others(45): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24306357 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0019 | a0002c0019t0006 | a0002c0019t0006g0226 | 1 | 348 | 0.0029 | 30 | c.151 others(47): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24325871 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0278 | 1 | 348 | 0.0029 | 30 | c.891 others(45): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39045384 | A | ATGTGCGT others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03139.hp2 HG03516.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0131a0002c0002t0002g0192a0002c0002t0002g0193 | 3 | 332 | 0.0090 | 30 | c.130 others(49): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | chr8 | TogoVar | ||||||
ADAMDEC1_chr8_24379285_24411013 | 24400632 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0055 | 2 | 404 | 0.0050 | 30 | c.114 others(47): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS14_chr10_70667506_70767441 | 70688843 | C | CGGAGGGA others(23): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0028 | a0003c0028t0007 | a0003c0028t0007g0004 | 1 | 354 | 0.0028 | 30 | c.523 others(49): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS14_chr10_70667506_70767441 | 70688844 | G | GTGGGGCG others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00738.hp1 others(15): Show |
a0001a0003a0004others(3): Show | a0001c0002a0001c0004a0001c0007others(11): Show | a0001c0002t0018a0001c0002t0041a0001c0004t0009others(14): Show | a0001c0002t0018g0090a0001c0002t0041g0075a0001c0004t0009g0088others(15): Show | 18 | 354 | 0.0509 | 30 | c.523 others(49): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70759132 | T | TTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01168.hp1 HG01258.hp2 others(8): Show |
a0001a0004a0020 | a0001c0002a0001c0007a0001c0026others(4): Show | a0001c0002t0002a0001c0002t0020a0001c0007t0002others(6): Show | a0001c0002t0002g0130a0001c0002t0002g0321a0001c0002t0020g0068others(8): Show | 11 | 354 | 0.0311 | 30 | c.317 others(47): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADAMTS15_chr11_130443645_130481645 | 130470133 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0280 | 1 | 398 | 0.0025 | 30 | c.172 others(47): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100119043 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01358.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0007a0002c0004others(6): Show | a0001c0005t0009a0001c0005t0011a0001c0007t0018others(7): Show | a0001c0005t0009g0030a0001c0005t0011g0179a0001c0007t0018g0045others(8): Show | 11 | 228 | 0.0483 | 30 | c.172 others(49): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 12/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100140488 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02698.hp1 |
a0001a0006 | a0001c0017a0006c0016 | a0001c0017t0037a0006c0016t0059 | a0001c0017t0037g0047a0006c0016t0059g0096 | 2 | 228 | 0.0088 | 30 | c.147 others(49): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 10/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100255617 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 |
a0004a0005 | a0004c0003a0005c0045 | a0004c0003t0003a0005c0045t0013 | a0004c0003t0003g0012a0005c0045t0013g0005 | 2 | 228 | 0.0088 | 30 | c.103 others(49): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 6/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00621.hp2 others(23): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0024a0003c0002others(11): Show | a0001c0001t0002a0001c0024t0021a0003c0002t0006others(15): Show | a0001c0001t0002g0046a0001c0001t0002g0141a0001c0024t0021g0304others(23): Show | 26 | 326 | 0.0798 | 30 | c.253 others(49): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77314753 | C | CTTATATA others(23): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03831.hp2 |
a0002a0004 | a0002c0057a0004c0003 | a0002c0057t0033a0004c0003t0005 | a0002c0057t0033g0158a0004c0003t0005g0007 | 2 | 326 | 0.0061 | 30 | c.253 others(49): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 16/22 | chr16 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129549874 | A | ATGTATCT others(23): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0200 | 2 | 226 | 0.0089 | 30 | c.132 others(49): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0045 | 2 | 226 | 0.0089 | 30 | c.147 others(51): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129608116 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 226 | 0.0044 | 30 | c.147 others(51): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129645885 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 226 | 0.0044 | 30 | c.187 others(49): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658343 | A | AAGAAAGA others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 226 | 0.0044 | 30 | c.230 others(47): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658347 | A | AAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0221 | 1 | 226 | 0.0044 | 30 | c.230 others(47): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129658351 | A | AAGAAAGA others(23): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 226 | 0.0044 | 30 | c.230 others(47): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS20_chr12_43348866_43557203 | 43420800 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 306 | 0.0033 | 30 | c.428 others(49): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 306 | 0.0033 | 30 | c.161 others(49): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228a0001c0001t0001g0229 | 2 | 306 | 0.0065 | 30 | c.161 others(49): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460988 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18979.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0042a0001c0001t0001g0087 | 3 | 306 | 0.0098 | 30 | c.161 others(49): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72530081 | T | TATAATAT others(23): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0022 | 1 | 182 | 0.0055 | 30 | c.504 others(49): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550002 | A | AAGGAGAA others(23): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 182 | 0.0055 | 30 | c.98- others(45): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar |